Varaico: Literature-Extracted Genetic Variants

POMC

960 papers

RefSeq Summary

This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight pote...

Pfam Domains

NPPaa 27–70UCSCPro-opiomelanocortin, N-terminal region

ACTH_domainaa 74–91UCSCCorticotropin ACTH domain

ACTH_domainaa 136–155UCSCCorticotropin ACTH domain

ACTH_domainaa 218–236UCSCCorticotropin ACTH domain

Op_neuropeptideaa 237–264UCSCOpioids neuropeptide

Gene Aliases

HGNC Name

proopiomelanocortin

HGNC Alias Symbols

ACTH; NPP; LPH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000939.4

p.R104P

c.311G>C

Surrounding Variants

1 paper

NM_000939.4

p.R104L

c.311G>T

2 papers

NM_000939.4

p.R104H

c.311G>A

2 papers

NM_000939.4

p.R104C

c.310C>T

1 paper

NM_000939.4

p.R104G

c.310C>G

1 paper

NM_000939.4

p.R104S

c.310C>A

9 papers

NM_000939.4

p.E105*

c.313G>T

3 papers

NM_000939.4

p.K103N

c.309G>T

4 papers

NM_000939.4

p.K103N

c.309G>C

1 paper

NM_000939.4

p.E105Q

c.313G>C

1 paper

NM_000939.4

p.E105K

c.313G>A

1 paper

NM_000939.4

p.E105V

c.314A>T

1 paper

NM_000939.4

p.K103M

c.308A>T